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Hyper IgM Syndrome

National Organization for Rare Disorders, Inc.

ImportantIt is possible that the main title of the report Hyper IgM Syndrome is not the name you expected.

Disorder Subdivisions

None

General Discussion

Hyper-IgM Syndrome (HIM) is a rare genetic (primary) immunodeficiency disorder that is typically inherited as an X-linked recessive genetic trait. Symptoms and physical findings associated with the disorder usually become apparent in the first or second year of life. Hyper-IgM Syndrome may be characterized by recurrent pus-producing (pyogenic) bacterial infections of the upper and lower respiratory tract including the sinuses (sinusitis) and/or the lungs (pneumonitis or pneumonia); the middle ear (otitis media); the membrane that lines the eyelids and the white portions (sclera) of the eyes (conjunctivitis); the skin (pyoderma); and/or, in some cases, other areas. Individuals with Hyper-IgM Syndrome are also susceptible to "opportunistic" infections, i.e., infections caused by microorganisms that usually do not cause disease in individuals with fully functioning immune systems (non-immunocompromised) or widespread (systemic) overwhelming disease by microorganisms that typically cause only localized, mild infections. In individuals with Hyper-IgM Syndrome, such opportunistic infections may include those caused by Pneumocystis carinii, a microorganism that causes a form of pneumonia, or Cryptosporidium, a single-celled parasite (protozoa) that can cause infections of the intestinal tract. In addition, individuals with Hyper-IgM Syndrome are prone to certain autoimmune disorders affecting particular elements of the blood, such as neutropenia, a condition in which there is an abnormal decrease of certain white blood cells (neutrophils). Additional physical findings often associated with the disorder may include enlargement (hypertrophy) of the tonsils, enlargement of the liver and spleen (hepatosplenomegaly), chronic diarrhea and impaired absorption of nutrients by the intestinal tract (malabsorption), and/or other symptoms.

The range and severity of symptoms and physical features associated with this disorder may vary from case to case. Because approximately 70 percent of reported cases of Hyper-IgM Syndrome are inherited as an X-linked recessive genetic trait, the vast majority of affected individuals are male. However, some cases of autosomal recessive and autosomal dominant genetic inheritance have been reported. In addition, a rare acquired form of the disorder has been described in the medical literature.

Supporting Organizations

American Academy of Allergy, Asthma and Immunology

611 East Wells Street

Milwaukee, WI 53202

Tel: (414)272-6071

Fax: (414)276-3349

Tel: (800)822-2762

Email: info@aaaai.org

Website: http://www.aaaai.org

American Autoimmune & Related Diseases

22100 Gratiot Ave.

Eastpointe, MI 48021

Tel: (586)776-3900

Fax: (586)776-3903

Tel: (800)598-4668

Email: aarda@aarda.org

Website: http://www.aarda.org/

AutoImmunity Community

Website: https://www.facebook.com/autoimmunityforum

Center for International Blood and Marrow Transplant Research

Froedtert and the Medical College of Wisconsin Clinical Cancer Center

9200 W. Wisconsin Avenue

Milwaukee, WI 53226

Tel: (414)805-0700

Fax: (414)805-0714

Email: contactus@cibmtr.org

Website: http://www.cibmtr.org/

European Society for Immunodeficiencies

1-3 rue de Chantepoulet

Geneva, CH 1211

Switzerland

Tel: 410229080484

Fax: 41229069140

Email: esid@kenes.com

Website: http://www.esid.org

Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

Website: http://rarediseases.info.nih.gov/GARD/

Immune Deficiency Foundation

110 West Road

Suite 300

Towson, MD 21204

Tel: (410)321-6647

Fax: (410)321-9165

Tel: (800)296-4433

Email: idf@primaryimmune.org

Website: http://www.primaryimmune.org

International Patient Organization for Primary Immunodeficiencies

Firside Main Road

Downderry

Cornwall, PL11 3LE

United Kingdom

Tel: 441503250668

Fax: 441503250961

Email: info@ipopi.org

Website: http://www.ipopi.org/

Jeffrey Modell Foundation

780 Third Avenue

New York, NY 10017

USA

Tel: (212)819-0200

Fax: (212)764-4180

Tel: (866)469-6474

Email: info@jmfworld.org

Website: http://www.info4pi.org

March of Dimes

1275 Mamaroneck Avenue

White Plains, NY 10605

Tel: (914)997-4488

Fax: (914)997-4763

Email: AskUs@marchofdimes.org or preguntas@nacersano.org

Website: http://www.marchofdimes.org and nacersano.org

NIH/National Heart, Lung and Blood Institute

P.O. Box 30105

Bethesda, MD 20892-0105

Tel: (301)592-8573

Fax: (301)251-1223

Email: nhlbiinfo@rover.nhlbi.nih.gov

Website: http://www.nhlbi.nih.gov/

NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases

Information Clearinghouse

One AMS Circle

Bethesda, MD 20892-3675

USA

Tel: (301)495-4484

Fax: (301)718-6366

Tel: (877)226-4267

Email: NIAMSinfo@mail.nih.gov

Website: http://www.niams.nih.gov/

National Bone Marrow Transplant Link

20411 W. 12 Mile Rd

Suite 108

Southfield, MI 48076

Tel: (248)358-1886

Fax: (248)358-1889

Tel: (800)546-5268

Email: info@nbmtlink.org

Website: http://www.nbmtlink.org

National Neutropenia Network

P.O. Box 1693

Brighton, MI 48116

USA

Tel: (517)294-0736

Email: leereeves99@gmail.com

Website: http://www.neutropenianet.org

Neutropenia Support Association, Inc.

971 Corydon Avenue

P.O. Box 243

Manitoba, R3M 3S7

Canada

Tel: 2044898454

Tel: 8006638876

Email: stevensl@neutropenia.ca

Website: http://www.neutropenia.ca

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

Last Updated: 4/16/2008Copyright 2002 National Organization for Rare Disorders, Inc.

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